De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome
Am J Hum Genet
.
1998 Mar;62(3):717-9.
doi: 10.1086/301751.
Authors
S Takahashi
,
Y Makita
,
J Oki
,
A Miyamoto
,
J Yanagawa
,
E Naito
,
Y Goto
,
A Okuno
PMID:
9556461
PMCID:
PMC1376970
DOI:
10.1086/301751
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Child
DNA, Mitochondrial / genetics*
Humans
Infant
Leigh Disease / genetics*
Male
Microscopy, Electron
Mitochondria, Muscle / ultrastructure
Point Mutation*
Polymerase Chain Reaction
Substances
DNA, Mitochondrial